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Article

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.

Journal of inherited metabolic disease - 1 Sept 2018

Chesher Douglas, Oddy Michael, Darbar Ulpee, Sayal Parag, Casey Adrian, Ryan Aidan, Sechi Annalisa, Simister Charlotte, Waters Aoife, Wedatilake Yehani, Lachmann Robin H, Murphy Elaine

Abstract excerpt

X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH. XLH is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29460029
DOI: 10.1007/s10545-018-0147-6
PMCID: PMC6133187

Genes

PHEX
FGF23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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